Early cardiac mechanics abnormalities in patients with mitochondrial diseases.

BACKGROUND: Evidence about early cardiac mechanics abnormalities in patients with mitochondrial diseases (MDs) before overt cardiomyopathy is limited. METHODS: In this prospective study, we performed a comparative analysis of conventional and speckle tracking echocardiographic parameters between patients with genetically identified MDs and no overt cardiomyopathy vs controls matched for age, sex and cardiovascular risk factors. The Newcastle mitochondrial disease adult scale (NMDAS) was calculated, using a threshold of > 21 as indicator of high disease severity. RESULTS: We enrolled 24 MDs patients (50 % males, mean age 47.2 ± 14.3 years), the most prevalent mutation was the MT-TL1 m.3243A>G (37.5 %). In MDs patients all dimensional echocardiographic parameters were similar to controls. Conversely, albeit normal, Tissue Doppler septal systolic (p = 0.002) and early diastolic velocities (p = 0.016) were significantly lower and E/e' ratio was higher (p = 0.032) in MDs. Moreover, LV-GLS was significantly reduced in MDs as compared to their counterparties (20.2 ± 1.6 vs 22.6 ± 1.5, p < 0.001). Similarly, LA reservoir and conduit strain were significantly lower in MDs (31.7 ± 7.0 vs 35.9 ± 6.6, p = 0.038; 19.7 ± 5.6 vs 23.1 ± 6.0, p = 0.049 respectively), while LA contractile strain was similar between the two groups. Lower values of LV-GLS were observed in patients with NMDAS > 21 vs patients with NMDAS ≤ 21 (19.0 ± 1.2 vs 21.0 ± 1.3, p = 0.001). CONCLUSIONS: In patients with MDs and no overt cardiomyopathy Tissue Doppler and speckle tracking analysis unveil worse LV systolic and diastolic function indices as compared to controls. Reduced LV-GLS values were found especially in those with worse disease burden.

Outcomes of Minimally Invasive Aortic Valve Replacement in Obese Patients: A Propensity-Matched Study.

INTRODUCTION: Obese patients are at risk of complications after cardiac surgery. The aim of this study is to investigate safety and efficacy of a minimally invasive approach via upper sternotomy in this setting. METHODS: We retrospectively reviewed 203 obese patients who underwent isolated, elective aortic valve replacement between January 2014 and January 2023 - 106 with minimally invasive aortic valve replacement (MIAVR) and 97 with conventional aortic valve replacement (CAVR). To account for baseline differences, a propensity-matching analysis was performed obtaining two balanced groups of 91 patients each. RESULTS: The 30-day mortality rate was comparable between groups (1.1% MIAVR vs. 0% CAVR, P=0.99). MIAVR patients had faster extubation than CAVR patients (6 ± 2 vs. 9 ± 2 hours, P<0.01). Continuous positive airway pressure therapy was less common in the MIAVR than in the CAVR group (3.3% vs. 13.2%, P=0.03). Other postoperative complications did not differ significantly. Intensive care unit stay (1.8 ± 1.2 vs. 3.2 ± 1.4 days, P<0.01), but not hospital stay (6.7 ± 2.1 vs. 7.2 ± 1.9 days, P=0.09), was shorter for MIAVR than for CAVR patients. Follow-up survival was comparable (logrank P-value = 0.58). CONCLUSION: MIAVR via upper sternotomy has been shown to be a safe and effective option for obese patients. Respiratory outcome was promising with shorter mechanical ventilation time and reduced need for post-extubation support. The length of stay in the intensive care unit was reduced. These advantages might be important for the obese patient to whom minimally invasive surgery should not be denied.

Outcomes of Minimally Invasive Aortic Valve Replacement in Obese Patients: A Propensity-Matched Study

ABSTRACT Introduction: Obese patients are at risk of complications after cardiac surgery. The aim of this study is to investigate safety and efficacy of a minimally invasive approach via upper sternotomy in this setting. Methods: We retrospectively reviewed 203 obese patients who underwent isolated, elective aortic valve replacement between January 2014 and January 2023 - 106 with minimally invasive aortic valve replacement (MIAVR) and 97 with conventional aortic valve replacement (CAVR). To account for baseline differences, a propensity-matching analysis was performed obtaining two balanced groups of 91 patients each. Results: The 30-day mortality rate was comparable between groups (1.1% MIAVR vs. 0% CAVR, P=0.99). MIAVR patients had faster extubation than CAVR patients (6 ± 2 vs. 9 ± 2 hours, P<0.01). Continuous positive airway pressure therapy was less common in the MIAVR than in the CAVR group (3.3% vs. 13.2%, P=0.03). Other postoperative complications did not differ significantly. Intensive care unit stay (1.8 ± 1.2 vs. 3.2 ± 1.4 days, P<0.01), but not hospital stay (6.7 ± 2.1 vs. 7.2 ± 1.9 days, P=0.09), was shorter for MIAVR than for CAVR patients. Follow-up survival was comparable (logrank P-value = 0.58). Conclusion: MIAVR via upper sternotomy has been shown to be a safe and effective option for obese patients. Respiratory outcome was promising with shorter mechanical ventilation time and reduced need for post-extubation support. The length of stay in the intensive care unit was reduced. These advantages might be important for the obese patient to whom minimally invasive surgery should not be denied.

Comparison of De-Kay repair versus De Vega suture for functional tricuspid regurgitation: a preliminary experience.

BACKGROUND: In patients undergoing mitral valve surgery, restrictive suture annuloplasty (De Vega) for less-than-severe functional tricuspid regurgitation has been proven to be safe and effective. The aim of this study is to determine whether the adjunct of the plication of the posterior tricuspid leaflet with the same running suture (bicuspidized De Vega or "De Kay") is equally safe and effective. METHODS: Single center, retrospective study on patients submitted to suture repair of the tricuspid valve during mitral valve surgery, with either conventional or De Kay, between January 2014 and December 2020. Comparison was based on degree of residual tricuspid valve regurgitation and right ventricular assessment at discharge. RESULTS: Over the course of the study period, 255 patients undergoing mitral valve surgery had a dilated (>40 mm or >20 mm/m2) tricuspid valve annulus, with less-than-severe tricuspid regurgitation. Conventional De Vega was employed in 166 patients (65.1%) and De Kay in the remaining 89 (34.9%). At discharge the adjunct of postero-septal commissure plication has similar outcomes to the classic De Vega repair. It seems to preserve right ventricular function. CONCLUSIONS: De Kay repair guarantees the same tricuspidal regurgitation reduction as compared with conventional De Vega early after surgery.

Performance, clinical outcomes and implementation of an original heart valve clinic model.

BACKGROUND: Valvular heart disease (VHD) requires optimized outpatient management that is generally considered to be best delivered by a dedicated, multidisciplinary team (Heart Valve Clinic [HVC]). Although HVC is promoted by clinical guidelines and organized in many centers, real world outcome assessments are limited. Thus, we evaluated the performance, clinical and management outcomes during a 6-year experience with an original HVC model. METHODS: By interrogating the local database, 1047 consecutive patients admitted to the HVC from January 2015 to October 2020 were found. Management and mortality were checked for all patients. After 3 years of HVC activity, in order to improve appropriateness and efficiency, access priority criteria were introduced. Thus, the study population was divided in two period subgroups (before and after access criteria introduction) that were compared. RESULTS: A total of 1047 consecutive patients admitted to the HVC constituted the study population; 346 patients (33%) were recommended for invasive treatment. After a mean follow-up of 25.7±3.1 months, 37 patients (3.5%) died. When comparing study periods, statistically significant increase inpatients' complexity and VHD severity was noticed in Period 2, also translating into higher rate of referral to intervention (39.0% vs. 29.4% in Period 1; P=0.001). Finally, despite higher rate of elderly and frail patients, operative mortality was not jeopardized. CONCLUSIONS: The present study reports a comprehensive assessment of the characteristics and outcomes achieved through an original HVC model. Standardization of access criteria supports the HVC improvement.

Right ventricular strain in Fabry disease: Prognostic implications.

INTRODUCTION: Left ventricular (LV) hypertrophy is the main feature of cardiac involvement in Anderson-Fabry disease (FD), but the right ventricle (RV) is also frequently affected. Previous studies failed to demonstrate an independent association between conventional parameters of RV performance and outcomes in FD. Nevertheless, if RV free wall strain (RV-FWS), assessed by 2D speckle tracking analysis, may provide a better prognostication is currently unknown. METHODS: We retrospectively evaluated the association between RV-FWS and the occurrence of cardiovascular events in a cohort of 56 patients with FD. The study endpoint comprises cardiovascular mortality, severe heart failure symptoms, new-onset atrial fibrillation and major arrhythmias requiring device implantation. RESULTS: Reduced RV-FWS, defined by values lower than 23%, was found in 25 (45%) patients. During a median follow-up of 47 months, 16 (29%) patients met the study endpoint. A ROC-curve analysis confirmed the threshold of reduced RV-FWS (<23%) as the best cut-off for predicting cardiovascular events, but with a lower power compared to left-sided parameters. On univariable Cox regression analysis, RV-FWS, expressed as continuous variable, was significantly associated with the study endpoint (HR: 0.795, 95% CI: 0.710-0.889, p < 0.001). However, RV-FWS did not retain a significant association with outcomes, after adjustment for LV global longitudinal strain or indexed left atrial volume (p = 0.340 and p = 0.289 respectively). CONCLUSIONS: RV-FWS was not independently associated with the occurrence of cardiovascular events in FD, confirming previous observations that prognosis is mainly driven by the severity of LV cardiomyopathy.

Impact of severe valvular heart disease in adult congenital heart disease patients.

Background: The clinical impact of valvular heart disease (VHD) in adult congenital heart disease (ACHD) patients is unascertained. Aim of our study was to assess the prevalence and clinical impact of severe VHD (S-VHD) in a real-world contemporary cohort of ACHD patients. Materials and methods: Consecutive patients followed-up at our ACHD Outpatient Clinic from September 2014 to February 2021 were enrolled. Clinical characteristics and echocardiographic data were prospectively entered into a digitalized medical records database. VHD at the first evaluation was assessed and graded according to VHD guidelines. Clinical data at follow-up were collected. The study endpoint was the occurrence of cardiac mortality and/or unplanned cardiac hospitalization during follow-up. Results: A total of 390 patients (median age 34 years, 49% males) were included and S-VHD was present in 101 (25.9%) patients. Over a median follow-up time of 26 months (IQR: 12-48), the study composite endpoint occurred in 76 patients (19.5%). The cumulative endpoint-free survival was significantly lower in patients with S-VHD vs. patients with non-severe VHD (Log rank p < 0.001). At multivariable analysis, age and atrial fibrillation at first visit (p = 0.029 and p = 0.006 respectively), lower %Sat O2, higher NYHA class (p = 0.005 for both), lower LVEF (p = 0.008), and S-VHD (p = 0.015) were independently associated to the study endpoint. The likelihood ratio test demonstrated that S-VHD added significant prognostic value (p = 0.017) to a multivariate model including age, severe CHD, atrial fibrillation, %Sat O2, NYHA, LVEF, and right ventricle systolic pressure > 45 mmHg. Conclusion: In ACHD patients, the presence of S-VHD is independently associated with the occurrence of cardiovascular mortality and hospitalization. The prognostic value of S-VHD is incremental above other established prognostic markers.

Predictors of survival in paediatric mitral valve surgery: the impact of age at operation at late follow-up.

OBJECTIVES: The aim of this study was to elucidate predictors of death and reintervention after mitral valve (MV) surgery in children. METHODS: A single-centre retrospective study was performed enrolling 142 patients younger than 18 years who underwent primary index surgical mitral repair or replacement at Bambino Gesù Children's Hospital in Rome from July 1982 to April 2020. Patients with complete, transitional or partial atrioventricular septal defect and patients with single ventricle physiology were excluded. Patients were stratified according to the age group: group 1 (<1 year old), group 2 (1-5 years old) and group 3 (>5 years old). The composite primary outcome was freedom from death or transplant. The secondary outcome was freedom from redo MV surgery. RESULTS: Transplant-free survival was 89% at 5 years and 88% at 10 years. Stratified by age, group 1 had poorer outcome in comparison with other groups (log-rank test P = 0.105). Both univariate and multivariate analyses showed that age <1 year was a significant risk factor for death or transplant (P = 0.044). Age <1 year was associated with increased risk of reoperation (aHR = 3.38, P = 0.009), while the presence of genetic syndrome (aHR = 0.22) and preoperative EF% (aHR = 0.97) were protective factors for reoperation. CONCLUSIONS: The overall survival and freedom from reoperation in children undergoing MV surgery still need improvements. Younger age was a significant risk factor for death and reintervention both after repair and replacement of the MV. In particular, infants and neonates have a three-fold risk for death compared to children.

Right ventricle-pulmonary artery coupling in repaired tetralogy of Fallot with pulmonary regurgitation: Clinical implications.

BACKGROUND: Right ventricle-pulmonary artery (RV-PA) coupling is a strong prognostic marker in several clinical settings, but few studies have focused on its role in repaired tetralogy of Fallot (rToF) with pulmonary regurgitation. AIM: To assess whether differences exist in RV-PA coupling, estimated by echocardiography, between patients with rToF and pulmonary regurgitation with or without an indication for pulmonary valve replacement (PVR). METHODS: The study population included 40 patients with rToF, who were allocated to two groups: 20 with an indication for PVR (i-PVR group); and 20 without an indication for PVR (ni-PVR group). Forty healthy controls were also included. All subjects underwent echocardiography, and cardiac magnetic resonance (CMR) was available in 27/40 patients with rToF. RV-PA coupling was assessed by echocardiographic tricuspid annular plane systolic excursion/pulmonary arterial systolic pressure (TAPSE/PASP) and right ventricular stroke volume/right ventricular end-systolic volume (RVSV/RVESV) by CMR. RESULTS: TAPSE was similar in the i-PVR and ni-PVR groups (19.0±3.4 vs 18.8±2.7mm; P=0.97) whereas RV-PA coupling was significantly worse in the i-PVR group versus the ni-PVR group (TAPSE/PASP 0.8±0.3 vs 1.1±0.5mm/mmHg; P=0.001), and in the i-PVR group versus the control group (P=0.02); there was no difference between the ni-PVR and control groups (P=0.29). CMR data confirmed the echocardiography results, with a significant difference in RV-PA coupling between the i-PVR and ni-PVR groups (RVSV/RVESV 0.9±0.2 vs 1.2±0.3mL/min/mL; P=0.01). CONCLUSIONS: This study demonstrates worse RV-PA coupling, despite normal RV systolic function, in patients with rToF with an indication for PVR. RV-PA coupling could be a sensitive marker of a progressive maladaptive RV response to long-standing volume overload in rToF before the onset of clinical symptoms and RV systolic dysfunction.

Bicuspidized De Vega for Functional Tricuspid Valve Regurgitation: "De-Kay Repair".

Functional tricuspid valve regurgitation in the contest of mitral valve disease is a highly prevalent disease. We describe a ringless technique that combines restrictive annuloplasty (De Vega) with posterior tricuspid leaflet obliteration (Kay) used for patients with less-than-severe functional tricuspid valve regurgitation undergoing mitral valve surgery. The technique has been in use at our center since 2012, showing promising long-term echocardiographic results, with stable reduction of the annulus size and stable reduction of the degree of regurgitation.

Early Right Heart Chambers Reverse Remodeling in Patients Operated in Adulthood for Congenital Lesions Associated with Right Heart Chambers Enlargement.

BACKGROUND: Progressive right heart chambers dilatation is frequent in the adult congenital heart disease (ACHD) population. We evaluated the immediate and mid-term response of right heart chambers to surgery performed in adulthood for lesions associated with right heart chambers enlargement. METHODS: Thirty-six adult patients with lesions associated with right heart chambers enlargement submitted to surgery were studied. We collected echocardiographic data of right ventricle (RV) mid-diameter, right atrial volume indexed, RV systolic pressure, and tricuspid annular plane systolic excursion (TAPSE) prior to surgery (T0), at 2 to 5 days (T1), and 3 to 6 months (T2) after surgery. RESULTS: At T1, we observed a significant decrease of RV mid-diameter (47.2 ± 8.4 vs. 39.6 ± 7.4 mm, P < .001), right atrial volume indexed (45.6 ± 26.6 vs. 27.2 ± 11 ml/m2, P < .001), and RV systolic pressure (39 ± 14.8 vs. 32.8 ± 11.3 mm Hg, P = .03). At T2, a further significant deviation in the rate of RV diameter (39.6 ± 7.4 vs. 34.5 ± 5.1 mm, P < .001), in RV systolic pressure (32.8 ± 11.3 vs. 25.3 ± 5 mm Hg, P = .03) and TAPSE (13.9 ± 3.2 vs. 15.8 ± 2.6 mm, P < .001) was observed. CONCLUSIONS: Positive right heart chambers remodeling occurs as early as in the immediate post-operative period in most ACHD patients operated for lesions associated with right heart chambers enlargement.

Heart Valve Critical Pathway and Heart Valve Clinic: Novel Benchmarks for Modern Management of Valvular Heart Disease.

The growing burden of valvular heart disease in Western countries represents a challenge for the daily clinical practice, especially in the light of the ever-increasing number of therapeutic options. The Euro Heart Survey showed that, among elderly subjects with severe, symptomatic valve dysfunction, surgery is denied for 33% of patients with aortic stenosis and for 50% of patients with mitral regurgitation. Current management (from diagnosis to follow-up) is often fragmented in multiple-sometimes unnecessary-steps. Such a "patchy" approach may translate into a suboptimal management, especially in the geriatric population. New healthcare models exist that can coordinate care, reduce fragmentation, limit costs and, ultimately, improve outcomes: the clinical pathways.

Telemedicine for adult congenital heart disease patients during the first wave of COVID-19 era: a single center experience.

AIM: To summarize our experience on the implementation of a telemedicine service dedicated to adult congenital heart disease (ACHD) patients during the lockdown for the first wave of Coronavirus disease 2019 (COVID-19). METHODS: This is a prospective study enrolling all ACHD patients who answered a questionnaire dedicated telematic cardiovascular examination. RESULTS: A total of 289 patients were enrolled, 133 (47%) were male, 25 (9%) were affected by a genetic syndrome. The median age was 38 (29-51) years, whereas the median time interval between the last visit and the telematic follow-up was 9.5 (7.5-11.5) months. Overall, 35 patients (12%) reported a worsening of fatigue in daily life activity, 17 (6%) experienced chest pain, 42 (15%) had presyncope and 2 (1%) syncope; in addition, 28 patients (10%) presented peripheral edema and 14 (5%) were orthopneic. A total of 116 (40%) patients reported palpitations and 12 had at least one episode of atrial fibrillation and underwent successful electrical (8) or pharmacological (4) cardioversion. One patient was admitted to the emergency department for uncontrolled arterial hypertension, five for chest pain, and one for heart failure. Two patients presented fever but both had negative COVID-19 nasal swab. CONCLUSION: During the COVID-19 pandemic, the use of telemedicine dramatically increased and here we report a positive experience in ACHD patients. The postpandemic role of telemedicine will depend on permanent regulatory solutions and this early study might encourage a more systematic telematic approach for ACHD patients.

Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies.

Duchenne muscular dystrophy (DMD) cardiomyopathy (DCM) is characterized by a hypokinetic, dilated phenotype progressively increasing with age. Regular cardiac care is crucial in DMD care. Early recognition and prophylactic use of angiotensin converting enzyme inhibitors (ACEi) are the main stay therapeutic strategy to delay incidence of DMD-DCM. Pharmacological treatment to improve symptoms and left ventricle (LV) systolic function, have been widely implemented in the past years. Because of lack of DMD specific drugs, actual indications for established DCM include current treatment for heart failure (HF). This review focuses on current HF strategies to identify, characterize, and treat DMD-DCM.

Results for tricuspid valve surgery in adults with congenital heart disease other than Ebstein's anomaly†.

OBJECTIVES: Tricuspid valve (TV) surgery in the adult with congenital heart disease (ACHD) is a frequently performed procedure. The aim of this study was to analyse postoperative and medium-term outcomes. METHODS: We conducted a single-centre retrospective study of patients with ACHD who underwent TV surgery (January 2000-December 2016); patients with Ebstein's anomalies were excluded. Operative and clinical records were reviewed. Outcomes considered were survival, grade of insufficiency/stenosis and TV reoperation at follow-up. RESULTS: A total of 128 patients with ACHD had TV surgery for functional regurgitation (n = 95), dysplasia (n = 23) and systemic TV (n = 10). Median age was 40.8 years [interquartile range (IQR) 25.3]; 55.5% were men. Preoperative regurgitation was classified as mild (n = 8), moderate (n = 47) and severe (n = 70). The TV was repaired in 109 as follows: ring annuloplasty (n = 43), de Vega annuloplasty (n = 29), Wooler annuloplasty (n = 13), commissural plasty (n = 9), Kay annuloplasty (n = 7) and others (n = 8). The TV was replaced in 19 patients with biological (n = 10) and mechanical (n = 9) prostheses. The median hospital stay was 12 days (IQR 10). The overall mortality rate was 8.6% (n = 11): 2 hospital deaths (1.6%) and 9 late deaths. Survival was 93% [95% confidence interval (CI) 85-97%] at 5 years and 83% (95% CI 70-91%) at 10 years. The median follow-up period was 4.95 years (IQR 7.7) with 1 TV reoperation. Echocardiographic assessment showed ≥moderate regurgitation in 34 (34.3%) patients. Suture plasty had a significantly higher incidence of TV regurgitation ≥moderate compared to ring annuloplasty (48.9% vs 26.3%; P = 0.033). CONCLUSIONS: TV surgery in the ACHD is frequently associated with other main procedures. Stabilizing the TV annulus with a prosthetic ring guarantees lower recurrence of moderate to severe regurgitation compared to suture plasty repair.